A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5469307



Internal ID247096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:139793539..139817400hg38UCSC Ensembl
chr4:140714693..140738554hg19UCSC Ensembl
Cytoband4q31.1
Allele length
AssemblyAllele length
hg3823862
hg1923862
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16958497
Samples
Known GenesMAML3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5469307
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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